10505[Gene ID] - ClinVar

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Items: 72

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 152995	GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3	LOC126806252, LOC126806253 +2457 more	Copy number gain	See cases	GBenign
Select item 146814	GRCh38/hg38 2p16.1-11.2(chr2:58279519-83586962)x3	AAK1, ACTG2 +768 more	Copy number gain	See cases	GPathogenic
Select item 155389	GRCh38/hg38 2p13.1-12(chr2:74375779-75517520)x1	AUP1, C2orf81 +86 more	Copy number loss	See cases	GLikely pathogenic
Select item 147468	GRCh38/hg38 2p13.1-12(chr2:74432069-75181627)x3	AUP1, CCDC142 +66 more	Copy number gain	See cases	GUncertain significance
Select item 3159830	NM_004263.5(SEMA4F):c.5C>T (p.Pro2Leu)	LOC129934151, SEMA4F (P2L)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2545640	NM_004263.5(SEMA4F):c.52T>C (p.Ser18Pro)	LOC129934151, SEMA4F (S18P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2470488	NM_004263.5(SEMA4F):c.61C>G (p.Pro21Ala)	LOC129934151, SEMA4F (P21A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2250479	NM_004263.5(SEMA4F):c.173C>G (p.Ala58Gly)	SEMA4F (A58G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2536911	NM_004263.5(SEMA4F):c.182A>G (p.His61Arg)	SEMA4F (H61R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3159828	NM_004263.5(SEMA4F):c.224A>G (p.His75Arg)	SEMA4F (H75R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2651079	NM_004263.5(SEMA4F):c.235G>A (p.Val79Ile)	SEMA4F (V79I)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2519815	NM_004263.5(SEMA4F):c.241G>A (p.Ala81Thr)	SEMA4F (A81T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2617404	NM_004263.5(SEMA4F):c.332A>G (p.Asn111Ser)	SEMA4F (N111S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2300339	NM_004263.5(SEMA4F):c.371A>G (p.Asn124Ser)	SEMA4F (N124S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2316540	NM_004263.5(SEMA4F):c.500G>A (p.Arg167Gln)	SEMA4F (R167Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2214252	NM_004263.5(SEMA4F):c.503G>A (p.Gly168Glu)	SEMA4F (G168E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2312345	NM_004263.5(SEMA4F):c.516T>A (p.Phe172Leu)	SEMA4F (F172L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3159829	NM_004263.5(SEMA4F):c.528G>T (p.Gln176His)	SEMA4F (Q176H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2382586	NM_004263.5(SEMA4F):c.556G>T (p.Val186Phe)	SEMA4F (V186F +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2384707	NM_004263.5(SEMA4F):c.599C>G (p.Pro200Arg)	SEMA4F (P200R +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2491642	NM_004263.5(SEMA4F):c.616G>A (p.Val206Met)	SEMA4F (V173M +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2651080	NM_004263.5(SEMA4F):c.627C>T (p.Ala209=)	SEMA4F	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 3159831	NM_004263.5(SEMA4F):c.691G>A (p.Val231Met)	SEMA4F (V198M +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 2216359	NM_004263.5(SEMA4F):c.718G>A (p.Asp240Asn)	SEMA4F (D207N +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3159832	NM_004263.5(SEMA4F):c.772T>C (p.Phe258Leu)	SEMA4F (F225L +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2488980	NM_004263.5(SEMA4F):c.800C>T (p.Pro267Leu)	SEMA4F (P267L +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2210012	NM_004263.5(SEMA4F):c.835G>A (p.Gly279Ser)	SEMA4F (G246S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2321121	NM_004263.5(SEMA4F):c.947G>A (p.Arg316Gln)	SEMA4F (R283Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2508258	NM_004263.5(SEMA4F):c.971C>T (p.Pro324Leu)	SEMA4F (P169L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2259632	NM_004263.5(SEMA4F):c.995C>G (p.Ser332Cys)	SEMA4F (S177C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3159819	NM_004263.5(SEMA4F):c.1040C>T (p.Pro347Leu)	SEMA4F (P192L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3159820	NM_004263.5(SEMA4F):c.1106T>C (p.Leu369Pro)	SEMA4F (L214P +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2357775	NM_004263.5(SEMA4F):c.1174C>T (p.Arg392Trp)	SEMA4F (R237W +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2283382	NM_004263.5(SEMA4F):c.1208G>A (p.Arg403His)	SEMA4F (R370H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2366606	NM_004263.5(SEMA4F):c.1312G>A (p.Val438Met)	SEMA4F (V405M +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2482470	NM_004263.5(SEMA4F):c.1366G>A (p.Gly456Arg)	SEMA4F (G456R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2465861	NM_004263.5(SEMA4F):c.1544G>A (p.Arg515His)	SEMA4F (R360H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3159822	NM_004263.5(SEMA4F):c.1742C>T (p.Ala581Val)	SEMA4F (A426V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2595208	NM_004263.5(SEMA4F):c.1817C>T (p.Ala606Val)	SEMA4F (A573V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3159823	NM_004263.5(SEMA4F):c.1825C>A (p.Pro609Thr)	SEMA4F (P576T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2458530	NM_004263.5(SEMA4F):c.1828C>T (p.Arg610Trp)	SEMA4F (R455W +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3159824	NM_004263.5(SEMA4F):c.1852G>T (p.Val618Leu)	SEMA4F (V585L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2346670	NM_004263.5(SEMA4F):c.1859C>T (p.Pro620Leu)	SEMA4F (P465L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2512688	NM_004263.5(SEMA4F):c.1909C>T (p.His637Tyr)	SEMA4F (H604Y +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2476484	NM_004263.5(SEMA4F):c.1949G>A (p.Arg650Gln)	SEMA4F (R495Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2515274	NM_004263.5(SEMA4F):c.1963C>T (p.Arg655Trp)	SEMA4F (R500W +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3159825	NM_004263.5(SEMA4F):c.2047C>T (p.Arg683Cys)	SEMA4F (R650C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2385435	NM_004263.5(SEMA4F):c.2057G>A (p.Arg686Gln)	SEMA4F (R686Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3159826	NM_004263.5(SEMA4F):c.2146C>T (p.Pro716Ser)	SEMA4F (P683S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2605490	NM_004263.5(SEMA4F):c.2156C>A (p.Pro719His)	SEMA4F (P686H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3159827	NM_004263.5(SEMA4F):c.2180C>T (p.Pro727Leu)	SEMA4F (P572L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2208417	NM_004263.5(SEMA4F):c.2204G>A (p.Ser735Asn)	SEMA4F (S702N +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2263749	NM_004263.5(SEMA4F):c.2227C>G (p.Pro743Ala)	SEMA4F (P710A +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2271380	NM_004263.5(SEMA4F):c.2248C>G (p.Pro750Ala)	SEMA4F (P750A +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2252835	NM_004263.5(SEMA4F):c.2281C>T (p.Pro761Ser)	SEMA4F (P606S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2287462	NM_004263.5(SEMA4F):c.2293T>C (p.Cys765Arg)	SEMA4F (C765R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 147534	GRCh38/hg38 2p13.1-12(chr2:74690966-74875121)x3	HK2, HK2-DT +7 more	Copy number gain	See cases	GUncertain significance
Select item 3062659	GRCh37/hg19 2p13.3-12(chr2:71076472-76368354)x1	ACTG2, ALMS1 +60 more	Copy number loss	not specified	GLikely pathogenic
Select item 2498869	GRCh37/hg19 2p13.1-12(chr2:73716761-75347894)x1	ACTG2, ALMS1 +35 more	Copy number loss	not provided	GUncertain significance
Select item 1708190	GRCh37/hg19 2p25.1-q13(chr2:11504318-111365996)x1	ACTG2, ACTR1B +529 more	Copy number loss	See cases	GPathogenic
Select item 1703543	GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373)	ABCA12, ABCB11 +1216 more	Copy number gain	Mosaic trisomy 2	GPathogenic
Select item 980975	GRCh37/hg19 2p13.1-12(chr2:74780969-75444113)x3	DOK1, HK2 +5 more	Copy number gain	not provided	GUncertain significance
Select item 980974	GRCh37/hg19 2p13.1-12(chr2:74825161-75308974)x3	HK2, M1AP +3 more	Copy number gain	not provided	GLikely benign
Select item 814275	GRCh37/hg19 2p13.1-12(chr2:74892913-75231341)x3	SEMA4F, HK2 +1 more	Copy number gain	not provided	GLikely benign
Select item 689210	GRCh37/hg19 2p13.1-12(chr2:74895347-75829809)x3	EVA1A, HK2 +3 more	Copy number gain	not provided	GUncertain significance
Select item 562678	GRCh37/hg19 2p13.1-11.2(chr2:74527522-89125488)x1	ATOH8, AUP1 +78 more	Copy number loss	not provided	GPathogenic
Select item 560065	Single allele	AAK1, ACTG2 +127 more	Duplication	not provided	GPathogenic
Select item 524189	Single allele	ACMSD, C2orf27A +486 more	Deletion	not provided	GLikely pathogenic
Select item 442998	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)	RGPD4, RGPD5 +1214 more	Copy number gain	See cases	GPathogenic
Select item 442997	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3	IL1F10, IL1R1 +1214 more	Copy number gain	See cases	GPathogenic
Select item 442633	GRCh37/hg19 2p13.1-11.2(chr2:74365484-89129064)x1	SFTPB, SH2D6 +81 more	Copy number loss	See cases	GPathogenic
Select item 395485	GRCh37/hg19 2p13.1-12(chr2:74901369-75196822)x3	HK2, POLE4 +1 more	Copy number gain	See cases	GLikely benign

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Items: 72